The Study on Polymorphism of TrxR and Nrf2/HO-1 Signaling Pathway in Kaschin-Beck Disease

Kaschin-Beck disease (KBD) is an endemic, chronic, and degenerative osteoarthropathy, which seriously impairs the quality of patients' life. We detected the expression of TrxR by ELISA and found that TrxR was lower in KBD than in normal control group significantly (P<0.001); this result indicated that TrxR must be related to KBD. We retrieved cSNPs in NCBI SNP database and used three bioinformatics programmers, including SIFT, PolyPhen, and SNP3d, to help select the researched nsSNP. Then, we used PCR-RFLP to analyze the relationship between the SNP site rs5746841 in TrxR2 gene and susceptibility of KBD and detected the expression of Nrf2 and HO-1 by western blot. The results showed that the genotype of rs5746841 in 93 normal controls and 103 KBD subjects were C/C totally, but A/A and A/C were not found, which indicated preliminarily that there was no correlation between rs5746841 in TrxR2 gene and susceptibility of KBD. The expression of TrxR was lower in KBD than in normal control group significantly, while the expressions of Nrf2 and HO-1 were higher in KBD than in normal control group. These results indicated that the low expression of selenoprotein TrxR may be a candidate factor of KBD, which related to Nrf2/HO-1 signaling pathway.